A curated catalogue of human genomic structural variation




Variant Details

Variant: esv23869



Internal ID109233
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:113862952..114901117hg19UCSC Ensembl
Innerchr1:113664475..114702640hg18UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
Variant TypeCNV Loss
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusM
Merged Variants
Supporting Variantsesv21206, esv11517
SamplesNA18523, NA12414
Known GenesAP4B1, BCL2L15, DCLRE1B, HIPK1, LOC100287722, MAGI3, OLFML3, PHTF1, PTPN22, RSBN1, SYT6
Method
AnalysisAt the top level of the hierarchy, all contiguous bases overlapping at least 1bp of a CNV call are merged into a “CNV region” (CNVR).
PlatformSanger H. Sapiens NimbleGen 42M CGH Array
Comments
ReferenceConrad et al 2009
Pubmed ID19812545
Accession Number(s)esv23869
Frequency
Sample Size451
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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